동공부등을 동반한 2형 와덴버그증후군 1예

• 영문명: A Case of Waardenburg Syndrome Type 2 With Anisocoria
• 발행기관: 대한안과학회
• 저자명: 이승찬,Seung Chan Lee, MD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume51,number10, 1423~1426쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2010.10.15

영문 초록

Purpose: To report a case of Type 2 Waardenburg syndrome with anisocoria. Case summary: A 53-year-old woman with congenital deafness visited the clinic complaining of photophobia and heterochromic iris in the left eye. Her best-corrected visual acuity was 1.0 in the right eye and 0.7 in the left eye. The patient’s left eye showed complete iris hypopigmentation, and the right eye showed segmental iris hypopigmentation. Fundus examination demonstrated generalized decrease in retinal pigment with focal hypopigmented lesions in both eyes. The pupil sizes were 3 mm in the right eye and 5 mm in the left eye. A pure tone audiogram showed profound bilateral sensorineural hearing loss. Conclusions: In the present case, mydriasis was found to exist in a completely hypopigmented iris. Therefore, the neural crest from which the pupillary constrictor muscle originates may play a role in the pathogenesis of Waardenburg syndrome. J Korean Ophthalmol Soc 2010;51(10):1423-1426

키워드

Anisocoria, Heterochromic iris, Neural crest, Waardenburg syndrome